A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430667



Internal ID21088220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81464701..81888000hg38UCSC Ensembl
chr8:82376936..82800235hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38423300
hg19423300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18236178
Samples
Known GenesCHMP4C, FABP12, FABP4, IMPA1, SLC10A5, SNX16, ZFAND1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430667
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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